Touching Lives - September 2003
The unpredictable disease
SCD is called the unpredictable disease because you never know when the sufferer will have what is termed a ‘sickle cell crisis’. Blood cells are not round but crescent shaped in people who have SCD and this causes problems with circulation leading to blocked blood vessels and damaged organs.
This is what causes the crisis of acute pain, centred particularly in the chest and back. Such crises occur in most patients with SCD at some point in their lives, and can last from a few hours to a few days. Some people only have one crisis every few years while others may have many and require hospitalisation to receive pain relief.
Repeated crises can cause damage to the kidneys, lungs, bones, eyes and the central nervous system. Symptoms of SCD include joint pain, fatigue, rapid heart rate, delayed growth and puberty, susceptibility to infections, ulcers, jaundice, and bone and abdominal pain.
This terrible disease affects an estimated 10,000 people in the UK.
On an Action Medical Research project, Professor Faraneh Vargha-Khadem and colleagues from the Institute of Child Health in London have been following a group of around 100 children and babies with SCD to track their development and monitor the problems they experience. The children are being compared to those from similar backgrounds who do not have SCD.
Professor Vargha-Khadem told Touching Lives: “The Action Medical Research grant helped us follow the children from the original group as they grew up and allowed us to monitor a number of babies throughout the first year of their life.
“What we found was that some of the children had developed specific learning problems, and that different techniques could be used even with babies to monitor changes in mental activity in association with SCD.
“The goal of our research was to use a variety of techniques to identify those children with SCD who are at high risk of stroke. For example, ^by examining the velocity of blood flow, it is possible to identify those children who are showing abnormal levels of blood supply to the brain^.
“Such techniques allow the identification of brain regions that are vulnerable to imbalances in blood supply. We can then treat patients at risk by medication, or in some cases surgical intervention.
“Additionally, by examining those who have already suffered stroke, we get an idea of the range of problems that can develop and relate these to the location and extent of the brain injury. At present, there is no cure for SCD and so it is vital that affected children are monitored to help avoid crises.”
Sickle cell disease can often cause damage to the frontal lobes of the brain. These frontal lobes play an important role in short term memory, attention, and the ability to plan and multitask, so children with damage to these brain areas often find it difficult to maintain their attention and to concentrate. Over time, these problems can lead to reduced learning ability and interfere with the normal development of intelligence.
Professor Vargha-Khadem explained: “The learning problems associated with SCD are often diagnosed once the child has reached adolescence when the difficulties have become instilled and have caused psychological damage as well.
“We have devised techniques to identify children who would be at risk of such problems with the aim of intervening early during the educational process to help remediate learning difficulties. This approach is new. In so doing, we hope to minimise adverse effects so that sickle cell-affected children can have the best start in life.”
William Kamara is sixteen. Diagnosed with SCD when he was just six-months old after a routine test, William has been participating in the research project.
William’s mum, Melrose, a Teaching Assistant and also Chair of the Greenwich Sickle Cell Support Group, talks of the difficulties of having a child with SCD.
“You are always fearful when you have a child who has SCD. William has spent a lot of time in hospital and there have been many complications. You never know when he is going to have another crisis.
“Sometimes he balloons up and gets terrible pain in his legs, chest or stomach and then you must get him to hospital so the doctors can administer morphine. When he was younger I think he deliberately used to wait until the middle of the night to get sick and get me out of bed!
“^He has to take his medication every day — penicillin to ward off infections and folic acid for his blood^, and he will have to do this for the rest of his life. William has to go to three different hospitals: one looks after his breathing and neurology, one treats the ulcer on his foot, and another tests his blood. I make sure that he keeps all his appointments!
“There are lots of areas of William’s life that are affected by SCD, and this also affects the rest of the family. His sister used to get so upset to see him in pain and his aunt couldn’t believe it when she saw him have a crisis and just swell up before her eyes.
‘A devastating disease’
“It’s a devastating disease because people can die so quickly if they’re not taken to hospital. It is vital that schools are told if a child has the disease and what to do if a child is having a crisis because their life could depend on it.
“I have fought for William since he was young and will carry on fighting for him and others who are in the same situation. There is a stigma attached to the disease so we need much more education about SCD, which is why I run groups and seminars so people can find out more, and talk and help one another.”
William loves his computer. After sixth-form college he hopes to study I.T. at university. “I can manage OK now as I’m not really sick any more. ^I haven’t had a crisis for about two years now, but I know that I have to look after myself^. My mum nags me about eating and drinking enough and wearing a hat to keep warm, and lots of other things too!
“There is a girl in my class who has SCD and we talk about it sometimes. I’m lucky my friends are supportive of me when I’m ill. Having the disease means that I am not allowed to do certain things like swimming or visit a farm because of the risk of infection, and there is a limit to how much exercise I can do too.
“I sometimes fall asleep at school because of the lack of oxygen to my brain, which the teachers don’t like very much! And concentration is hard sometimes and this is another thing associated with the disease. Because you miss some school my mum arranged for me to have tutors at home so that my education doesn’t suffer too much. But you just have to deal with it. I’m glad that everything is OK at the moment and I hope it stays that way.”
For more information on SCD visit the campaign page.